Incidental Mutation 'R7976:Xpr1'
ID 650877
Institutional Source Beutler Lab
Gene Symbol Xpr1
Ensembl Gene ENSMUSG00000026469
Gene Name xenotropic and polytropic retrovirus receptor 1
Synonyms Rmc1, suppressor of yeast G deletion, Syg1, Rmc-1
MMRRC Submission 046019-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R7976 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 155275701-155417415 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155290289 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 571 (F571L)
Ref Sequence ENSEMBL: ENSMUSP00000027741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
AlphaFold Q9Z0U0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027741
AA Change: F571L

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: F571L

Pfam:SPX 1 174 1.4e-33 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 268 616 5.8e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111774
AA Change: F571L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: F571L

Pfam:SPX 1 176 1.5e-38 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 617 2.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111775
AA Change: F506L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: F506L

Pfam:SPX 1 176 4.5e-39 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 434 3.6e-45 PFAM
Pfam:EXS 432 552 3.6e-47 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes and heterozygotes for a variant from some wild Mus stocks, including M. spretus, support replication of xenotropic murine leukemia viruses and mink cell focus-forming murine leukemia viruses that are not replicated in most laboratory strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A C 12: 112,636,397 (GRCm38) I341L probably benign Het
Aldh1b1 T A 4: 45,803,092 (GRCm38) M210K possibly damaging Het
Ankrd17 G A 5: 90,283,592 (GRCm38) Q778* probably null Het
Bmper T C 9: 23,406,810 (GRCm38) V575A probably damaging Het
Brinp2 A G 1: 158,246,343 (GRCm38) V736A probably benign Het
Ccdc81 A T 7: 89,866,515 (GRCm38) L652* probably null Het
Cdt1 C T 8: 122,571,846 (GRCm38) R437W probably damaging Het
Ckb A C 12: 111,671,032 (GRCm38) L165R possibly damaging Het
Col25a1 G T 3: 130,496,426 (GRCm38) G255V probably damaging Het
Ddx17 A G 15: 79,535,955 (GRCm38) probably null Het
Dennd4a G T 9: 64,852,512 (GRCm38) G300W possibly damaging Het
Dlg4 T A 11: 70,039,182 (GRCm38) I316N probably damaging Het
Dlgap2 C T 8: 14,743,410 (GRCm38) P467L probably benign Het
Dnah9 T C 11: 65,841,401 (GRCm38) I4226M possibly damaging Het
Drc1 G A 5: 30,364,485 (GRCm38) A734T probably benign Het
Entpd1 A G 19: 40,612,421 (GRCm38) M1V probably null Het
Exph5 T G 9: 53,376,635 (GRCm38) I1672S possibly damaging Het
Fam149b T A 14: 20,377,784 (GRCm38) D379E probably damaging Het
Fgfr2 T C 7: 130,185,344 (GRCm38) T461A probably damaging Het
Frem1 A G 4: 83,001,709 (GRCm38) V469A probably damaging Het
Frem3 A T 8: 80,611,602 (GRCm38) K175* probably null Het
Fsd2 C T 7: 81,559,881 (GRCm38) G71E probably benign Het
Gcat T C 15: 79,034,988 (GRCm38) I116T probably damaging Het
Gigyf2 G A 1: 87,403,736 (GRCm38) S202N unknown Het
Glra3 T G 8: 56,112,876 (GRCm38) probably null Het
Golga4 C T 9: 118,536,768 (GRCm38) T296I possibly damaging Het
Herc1 C T 9: 66,434,270 (GRCm38) T1816I possibly damaging Het
Igfbpl1 C A 4: 45,826,786 (GRCm38) R3L unknown Het
Ighv15-2 A T 12: 114,564,850 (GRCm38) S28T probably benign Het
Kat2b T A 17: 53,648,807 (GRCm38) M427K probably benign Het
Kdm4c A G 4: 74,377,669 (GRCm38) T882A probably damaging Het
Kif1a G T 1: 93,039,774 (GRCm38) F1138L probably damaging Het
Klhl20 A T 1: 161,106,737 (GRCm38) S237R probably benign Het
Lamc1 A T 1: 153,247,268 (GRCm38) N725K probably damaging Het
Lmtk3 A G 7: 45,795,466 (GRCm38) D1191G unknown Het
Ltbp1 C A 17: 75,363,363 (GRCm38) N1466K possibly damaging Het
Ly75 T C 2: 60,365,088 (GRCm38) E242G probably damaging Het
Lyrm1 T C 7: 119,916,226 (GRCm38) V113A probably benign Het
Mfsd13a G T 19: 46,372,007 (GRCm38) A333S probably benign Het
Mllt10 T C 2: 18,162,403 (GRCm38) S380P possibly damaging Het
Mrc2 A G 11: 105,348,003 (GRCm38) K1295E possibly damaging Het
Muc5ac A T 7: 141,809,791 (GRCm38) I2280F unknown Het
Neurod2 A C 11: 98,327,197 (GRCm38) F380L probably damaging Het
Ntrk3 G A 7: 78,356,206 (GRCm38) A469V probably damaging Het
Nup205 T C 6: 35,198,953 (GRCm38) F584L probably damaging Het
Oas1d A T 5: 120,919,147 (GRCm38) Y272F probably damaging Het
Olfm3 T C 3: 115,081,145 (GRCm38) V30A probably benign Het
Or4c110 T A 2: 89,001,629 (GRCm38) I220F probably damaging Het
Or5b117 A G 19: 13,454,199 (GRCm38) I106T probably benign Het
Or8k22 A G 2: 86,332,720 (GRCm38) V212A probably benign Het
Pcdhga12 A G 18: 37,768,374 (GRCm38) Y753C probably damaging Het
Phox2b A G 5: 67,096,171 (GRCm38) V294A unknown Het
Prdm2 A T 4: 143,133,242 (GRCm38) C1159* probably null Het
Ptpn12 G T 5: 21,002,633 (GRCm38) S275* probably null Het
Rigi T C 4: 40,209,894 (GRCm38) M725V probably damaging Het
Rnf223 A T 4: 156,132,319 (GRCm38) E50D probably damaging Het
Rrp12 A T 19: 41,891,109 (GRCm38) Y169N probably benign Het
Sgip1 T C 4: 102,900,539 (GRCm38) probably null Het
Shank2 T C 7: 144,411,061 (GRCm38) I802T probably damaging Het
Skint2 A T 4: 112,624,132 (GRCm38) N64I probably damaging Het
Smpd3 A C 8: 106,255,622 (GRCm38) C617G probably benign Het
Tmem106c G C 15: 97,968,104 (GRCm38) G192R probably damaging Het
Tmem72 T C 6: 116,696,839 (GRCm38) H106R probably damaging Het
Upf2 G C 2: 6,026,115 (GRCm38) V789L unknown Het
Vash1 A G 12: 86,679,984 (GRCm38) probably benign Het
Vmn1r201 T A 13: 22,474,705 (GRCm38) Y30N probably benign Het
Yif1a T C 19: 5,089,787 (GRCm38) S87P probably damaging Het
Zer1 T C 2: 30,107,508 (GRCm38) Y462C probably damaging Het
Zfp597 G A 16: 3,866,511 (GRCm38) P127L possibly damaging Het
Zxdc T C 6: 90,398,767 (GRCm38) S742P probably benign Het
Other mutations in Xpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Xpr1 APN 1 155,290,234 (GRCm38) missense probably benign 0.00
IGL02657:Xpr1 APN 1 155,290,280 (GRCm38) missense probably benign 0.05
IGL03077:Xpr1 APN 1 155,281,028 (GRCm38) missense possibly damaging 0.58
R0019:Xpr1 UTSW 1 155,332,399 (GRCm38) splice site probably benign
R0350:Xpr1 UTSW 1 155,330,468 (GRCm38) missense probably damaging 1.00
R1299:Xpr1 UTSW 1 155,417,203 (GRCm38) missense probably damaging 0.99
R1855:Xpr1 UTSW 1 155,283,256 (GRCm38) missense probably benign
R2008:Xpr1 UTSW 1 155,281,029 (GRCm38) splice site probably null
R2071:Xpr1 UTSW 1 155,290,280 (GRCm38) missense probably benign 0.05
R4293:Xpr1 UTSW 1 155,312,796 (GRCm38) missense possibly damaging 0.91
R4509:Xpr1 UTSW 1 155,290,161 (GRCm38) intron probably benign
R5060:Xpr1 UTSW 1 155,328,684 (GRCm38) critical splice acceptor site probably null
R5527:Xpr1 UTSW 1 155,290,235 (GRCm38) missense probably benign
R5586:Xpr1 UTSW 1 155,312,863 (GRCm38) missense probably benign
R5860:Xpr1 UTSW 1 155,332,122 (GRCm38) intron probably benign
R7565:Xpr1 UTSW 1 155,307,742 (GRCm38) missense probably benign
R7729:Xpr1 UTSW 1 155,312,872 (GRCm38) missense probably benign
R7985:Xpr1 UTSW 1 155,312,895 (GRCm38) missense possibly damaging 0.56
R8330:Xpr1 UTSW 1 155,313,255 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15